Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Activated Protein C Resistance
|
30 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.800 | 0.941 | 17 | 1995 | 2019 | |||||
Factor V Leiden mutation
|
46 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.100 | 0.938 | 16 | 1997 | 2019 | |||||
Venous Thromboembolism
|
408 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.900 | 1.000 | 16 | 1997 | 2019 | |||||
Thrombophilia
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.060 | 1.000 | 6 | 1995 | 2020 | |||||
Ischemic stroke
|
704 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.740 | 0.400 | 5 | 1996 | 2016 | |||||
Deep Vein Thrombosis
|
93 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.730 | 1.000 | 4 | 1998 | 2016 | |||||
Antithrombin III Deficiency
|
52 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.030 | 1.000 | 3 | 1996 | 2018 | |||||
Hereditary Factor V Deficiency
|
7 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 3 | 1994 | 1994 | |||||
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
|
6 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.810 | 0.667 | 3 | 1995 | 2013 | |||||
Malignant Neoplasms
|
1641 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.020 | 1.000 | 2 | 2016 | 2020 | |||||
Primary malignant neoplasm
|
1374 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.020 | 1.000 | 2 | 2016 | 2020 | |||||
Pulmonary Thromboembolisms
|
6 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.020 | 0.500 | 2 | 1996 | 1998 | |||||
Acquired porencephaly
|
3 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
Antiphospholipid Syndrome
|
17 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
Blood Coagulation Disorders
|
31 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Breast Carcinoma
|
2793 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1 | 2014 | 2014 | ||||||
Cardiovascular Diseases
|
711 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Cerebrovascular accident
|
591 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Congenital porencephaly
|
3 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
Coronary heart disease
|
1178 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1 | 2009 | 2009 | ||||||
Dysfibrinogenemia
|
6 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Eclampsia
|
38 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
Endotoxemia
|
5 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Familial (FPAH)
|
276 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
HELLP Syndrome
|
10 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 |